Rami Abou Jamra

Referate
Zeit ID Programmpunkt  
17.03.2022
10:00–10:15
 
tba
Redezeit: 15 min
in Session:
EDU 2
Mutations we almost missed

17.03.2022
10:45–11:00
W1-004 
AutoCaSc: Prioritizing candidate genes for neurodevelopmental disorders
Redezeit: 15 min
in Session:
Workshop 1
Technology and Bioinformatics

Moderation
Zeit Titel der Session  
17.03.2022
16:00 – 17:30
Workshop 6
Neurogenetics
Abstracts (Beteiligung als Autor)
Zeit ID Programmpunkt  
17.03.2022
10:00–10:15
W2-001 
De novo variants in the PABP-domain of PABPC1 lead to developmental delay
17.03.2022
10:45–11:00
W1-004 
AutoCaSc: Prioritizing candidate genes for neurodevelopmental disorders
17.03.2022
15:14–15:16
P-ClinG-087 
Prenatal phenotype of PNKP-related primary microcephaly and unexpected complex variant mechanisms in RNA-analysis
17.03.2022
15:22–15:24
P-ClinG-067 
Supplementing evidence for novel disorders through routine diagnostics
18.03.2022
11:42–11:44
P-ClinG-038 
Why we should re-analyse – Insights from 152 cases with developmental disorders
18.03.2022
11:44–11:46
P-MonoG-144 
WARS1 and SARS1: two tRNA synthetases implicated in autosomal recessive microcephaly
18.03.2022
11:50–11:52
P-MonoG-154 
A new variant in ACTN2 in a patient with slowly progressive proximal myopathy
18.03.2022
12:04–12:06
P-Techno-196 
PTEE resource facilitates the choice of tissue for RNA-seq-based clinical genetics studies
18.03.2022
12:08–12:10
P-MonoG-176 
Posterior lissencephaly caused by domain specific missense-variants in CEP85L
18.03.2022
12:08–12:10
P-Techno-200 
A new tool in the box: Long-read sequencing in routine diagnostics
18.03.2022
12:08–12:10
P-ClinG-068 
PHIP-associated Chung-Jansen syndrome: report of 14 new individuals